NTRK1 and hereditary sensory and autonomic neuropathy type 4: In this study, we performed whole exome sequencing (WES) analysis to investigate the genetic etiology of CIPA in the affected child and identified c.851-33T>A(ClinVar ID: 21308) mutation and a novel c.850 + 5G>A(ClinVar ID:3069176) variant in NTRK1. Additionally, we utilized computational prediction tools and conducted minigene experiments as well as in vitro expression assays to assess the impact of novel variations on the CIPA phenotype.